Sequence analysis of mutations and translocations across breast cancer subtypes

Shantanu Banerji, Kristian Cibulskis, Claudia Rangel-Escareno, Kristin K. Brown, Scott L. Carter, Abbie M. Frederick, Michael S. Lawrence, Andrey Y. Sivachenko, Carrie Sougnez, Lihua Zou, Maria L. Cortes, Juan C. Fernandez-Lopez, Shouyong Peng, Kristin G. Ardlie, Daniel Auclair, Veronica Bautista-Piña, Fujiko Duke, Joshua Francis, Joonil Jung, Antonio Maffuz-Aziz, Robert C. Onofrio, Melissa Parkin, Nam H. Pho, Valeria Quintanar-Jurado, Alex H. Ramos, Rosa Rebollar-Vega, Sergio Rodriguez-Cuevas, Sandra L. Romero-Cordoba, Steven E. Schumacher, Nicolas Stransky, Kristin M. Thompson, Laura Uribe-Figueroa, Jose Baselga, Rameen Beroukhim, Kornelia Polyak, Dennis C. Sgroi, Andrea L. Richardson, Gerardo Jimenez-Sanchez, Eric S. Lander, Stacey B. Gabriel, Levi A. Garraway, Todd R. Golub, Jorge Melendez-Zajgla, Alex Toker (), Gad Getz (), Alfredo Hidalgo-Miranda () and Matthew Meyerson ()
Additional contact information
Shantanu Banerji: The Broad Institute of MIT and Harvard
Kristian Cibulskis: The Broad Institute of MIT and Harvard
Claudia Rangel-Escareno: Instituto Nacional de Medicina Genómica
Kristin K. Brown: Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, Massachusetts 02215
Scott L. Carter: The Broad Institute of MIT and Harvard
Abbie M. Frederick: The Broad Institute of MIT and Harvard
Michael S. Lawrence: The Broad Institute of MIT and Harvard
Andrey Y. Sivachenko: The Broad Institute of MIT and Harvard
Carrie Sougnez: The Broad Institute of MIT and Harvard
Lihua Zou: The Broad Institute of MIT and Harvard
Maria L. Cortes: The Broad Institute of MIT and Harvard
Juan C. Fernandez-Lopez: Instituto Nacional de Medicina Genómica
Shouyong Peng: Dana-Farber Cancer Institute
Kristin G. Ardlie: The Broad Institute of MIT and Harvard
Daniel Auclair: The Broad Institute of MIT and Harvard
Veronica Bautista-Piña: Instituto de Enfermedades de la Mama FUCAM
Fujiko Duke: The Broad Institute of MIT and Harvard
Joshua Francis: The Broad Institute of MIT and Harvard
Joonil Jung: The Broad Institute of MIT and Harvard
Antonio Maffuz-Aziz: Instituto de Enfermedades de la Mama FUCAM
Robert C. Onofrio: The Broad Institute of MIT and Harvard
Melissa Parkin: The Broad Institute of MIT and Harvard
Nam H. Pho: The Broad Institute of MIT and Harvard
Valeria Quintanar-Jurado: Instituto Nacional de Medicina Genómica
Alex H. Ramos: The Broad Institute of MIT and Harvard
Rosa Rebollar-Vega: Instituto Nacional de Medicina Genómica
Sergio Rodriguez-Cuevas: Instituto de Enfermedades de la Mama FUCAM
Sandra L. Romero-Cordoba: Instituto Nacional de Medicina Genómica
Steven E. Schumacher: The Broad Institute of MIT and Harvard
Nicolas Stransky: The Broad Institute of MIT and Harvard
Kristin M. Thompson: The Broad Institute of MIT and Harvard
Laura Uribe-Figueroa: Instituto Nacional de Medicina Genómica
Jose Baselga: Harvard Medical School
Rameen Beroukhim: The Broad Institute of MIT and Harvard
Kornelia Polyak: Dana-Farber Cancer Institute
Dennis C. Sgroi: Harvard Medical School
Andrea L. Richardson: Dana-Farber Cancer Institute
Gerardo Jimenez-Sanchez: Instituto Nacional de Medicina Genómica
Eric S. Lander: The Broad Institute of MIT and Harvard
Stacey B. Gabriel: The Broad Institute of MIT and Harvard
Levi A. Garraway: The Broad Institute of MIT and Harvard
Todd R. Golub: The Broad Institute of MIT and Harvard
Jorge Melendez-Zajgla: Instituto Nacional de Medicina Genómica
Alex Toker: Harvard Medical School
Gad Getz: The Broad Institute of MIT and Harvard
Alfredo Hidalgo-Miranda: Instituto Nacional de Medicina Genómica
Matthew Meyerson: The Broad Institute of MIT and Harvard

Nature, 2012, vol. 486, issue 7403, 405-409

Abstract: This paper reports one of the largest breast cancer whole-exome and whole-genome sequencing efforts so far, identifying previously unknown recurrent mutations in CBFB, deletions of RUNX1 and recurrent MAGI1–AKT3 fusion; the fusion suggests that the use of ATP-competitive AKT inhibitors should be evaluated in clinical trials.

Date: 2012
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DOI: 10.1038/nature11154

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